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| Smith-Lemli-Opitz Syndrome RSH Syndrome | RSH-SLO Syndrome | Smith-Lemli-Opitz Syndrome, Type I | Smith-Lemli-Opitz Syndrome, Type II | RSH SLO Syndrome | RSH Syndromes | RSH-SLO Syndromes | Smith Lemli Opitz Syndrome | Smith Lemli Opitz Syndrome, Type I Autosomal recessive disorder characterized by multiple congenital anomalies including microcephaly, mental retardation, unusual facies, and genital abnormalities. The biochemical defect is a lack of 7-dehydrocholesterol-delta-7-reductase, resulting in abnormally high levels of 7-dehydrocholesterol and low levels of cholesterol. |